catalog




CFTR-NGS variants catalogue


Variant hg19:chr7:117217581G/A


CFTR-NGS Variant details:
Name NM_000492.4:c.1585-10212G>A
Protein name NP_000483.3:p.(?)
Genomic name (hg19) chr7:g.117217581G>A    UCSC    gnomAD
#Exon/intron intron 11
Type in CFTR-NGS catalogue -
Class in CFTR-France not reported
WT sequence TTTGCAGTCATGGGATATATGATAA G CATTCTTGATTTATCATCTTCAATC
Mutant sequence TTTGCAGTCATGGGATATATGATAA A CATTCTTGATTTATCATCTTCAATC


Additional information:
MAF (GnomAD) 1.44e-03
Splicing prediction (SpliceAI) AG: 0.00 (49)
AL: 0.00 (-5)
DG: 0.00 (27)
DL: 0.00 (-5)




External sources:

Not found
Not found		dbSNP
rs190040141
Not found

Variant validation:
Sanger
(present/not present/not verified)
 Minigene
(effect/no effect/not performed)
not verifiednot performed



No patient found in CFTR-France


2 individuals (out of 136) carrying this variant are reported in CFTR-NGS catalogue:

TOTAL NUMBER OF INDIVIDUALS 2
CFTR-RD1
  • CFTR-RD  1
Pending (NBS) 1



Details of NGS patients:
ID Phenotype Laboratory Experiment Variant status Variant filter Quality score Depth of coverage
5CFTR-RDMontpellier150517_varilhheterozygous PASS 4977 403
11Pending (NBS)Montpellier150517_varilhheterozygous PASS 3489 337





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